Variant report

Variant	nsv587940
Chromosome Location	chr21:47454316-47455218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47454892-47454942	MCF10A-Er-Src	breast:	n/a
2	chr21:47454892-47454942	SK-N-SH_RA	brain:	n/a
3	chr21:47454892-47454942	AG09309	skin:	n/a
4	chr21:47454892-47454942	HCM	heart:	n/a
5	chr21:47454892-47454942	HCPEpiC	choroid plexus:	n/a
6	chr21:47454892-47454942	NHBE	bronchial:	n/a
7	chr21:47454892-47454942	HPAEpiC	pulmonary alveolar:	n/a
8	chr21:47454892-47454942	PFSK-1	brain:	n/a
9	chr21:47454892-47454942	GM06990	blood:	n/a
10	chr21:47454892-47454942	PrEC	prostate:	n/a
11	chr21:47454892-47454942	ECC-1	luminal epithelium:	n/a
12	chr21:47454892-47454942	IMR90	lung:	fetal
13	chr21:47454892-47454942	HEK293	kidney:	embryo
14	chr21:47454892-47454942	HRE	kidney:	n/a
15	chr21:47454892-47454942	BJ	skin:	n/a
16	chr21:47454892-47454942	AG04450	lung:	fetal
17	chr21:47454892-47454942	HRCEpiC	kidney:	n/a
18	chr21:47454892-47454942	RPTEC	kidney:	n/a
19	chr21:47454892-47454942	SKMC	muscle:	n/a
20	chr21:47454892-47454942	A549	lung:	n/a
21	chr21:47454892-47454942	GM12878	blood:	n/a
22	chr21:47454892-47454942	BE2_C	brain:	n/a
23	chr21:47454892-47454942	NB4	blood:	n/a
24	chr21:47454892-47454942	HAEpiC	amniotic membrane:	n/a
25	chr21:47454892-47454942	ProgFib	skin:	n/a
26	chr21:47454892-47454942	NHDF-neo	bronchial:	n/a
27	chr21:47454892-47454942	AoSMC	blood vessel:	n/a
28	chr21:47454892-47454942	SK-N-SH	brain:	n/a
29	chr21:47454892-47454942	AG10803	skin:	n/a
30	chr21:47454892-47454942	SAEC	small airway:	n/a
31	chr21:47454892-47454942	MCF-7	breast:	n/a
32	chr21:47454892-47454942	HMEC	breast:	n/a
33	chr21:47454892-47454942	AG09319	gingival:	n/a
34	chr21:47454892-47454942	HUVEC	blood vessel:	n/a
35	chr21:47454892-47454942	HRPEpiC	eye:	n/a
36	chr21:47454892-47454942	Jurkat	blood:	n/a
37	chr21:47454892-47454942	Hepatocyte	liver:	n/a
38	chr21:47454892-47454942	HIPEpiC	eye:	n/a
39	chr21:47454892-47454942	GM19239	blood:	n/a
40	chr21:47454892-47454942	CMK	blood:	n/a
41	chr21:47454892-47454942	Caco-2	colon:	n/a
42	chr21:47454892-47454942	GM12891	blood:	n/a
43	chr21:47454892-47454942	PANC-1	pancreas:	n/a
44	chr21:47454892-47454942	K562	blood:	n/a
45	chr21:47454892-47454942	HCT-116	colon:	n/a
46	chr21:47454892-47454942	HNPCEpiC	eye:	n/a
47	chr21:47454892-47454942	GM12892	blood:	n/a
48	chr21:47454892-47454942	HEEpiC	esophagus:	n/a
49	chr21:47454892-47454942	H1-hESC	embryonic stem cell:	embryo
50	chr21:47454892-47454942	Hela-S3	cervix:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224413	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75130188	chr21:47454321-47454322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79847470	chr21:47454322-47454323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77979469	chr21:47454323-47454324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76200822	chr21:47454324-47454325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112788406	chr21:47454327-47454328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76504526	chr21:47454333-47454334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78658908	chr21:47454336-47454337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75606480	chr21:47454341-47454342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79188080	chr21:47454359-47454360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565324327	chr21:47454395-47454396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532833664	chr21:47454396-47454397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs71324478	chr21:47454397-47454398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs71324479	chr21:47454415-47454416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113364700	chr21:47454439-47454440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71319713	chr21:47454469-47454470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28564798	chr21:47454471-47454472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71319711	chr21:47454489-47454490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111625947	chr21:47454495-47454496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28715634	chr21:47454501-47454502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71319709	chr21:47454504-47454505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28400438	chr21:47454509-47454510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112128905	chr21:47454527-47454528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76347870	chr21:47454545-47454546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369386410	chr21:47454546-47454547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28542578	chr21:47454547-47454548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373510755	chr21:47454555-47454556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567900697	chr21:47454557-47454558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79605029	chr21:47454581-47454582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111515869	chr21:47454583-47454584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113629448	chr21:47454584-47454585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201126559	chr21:47454600-47454601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74853043	chr21:47454601-47454602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74404610	chr21:47454603-47454604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78002520	chr21:47454607-47454608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56207127	chr21:47454624-47454625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75153922	chr21:47454637-47454638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112074667	chr21:47454663-47454664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111617108	chr21:47454669-47454670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111404851	chr21:47454695-47454696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113944358	chr21:47454719-47454720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74539958	chr21:47454725-47454726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569549958	chr21:47454771-47454772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185618164	chr21:47454789-47454790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373144100	chr21:47454807-47454808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566407182	chr21:47454827-47454828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533682445	chr21:47454831-47454832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558128136	chr21:47454835-47454836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113828831	chr21:47454837-47454838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576463104	chr21:47454846-47454847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76389305	chr21:47454863-47454864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47445600-47458600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47448400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:47449400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:47449400-47458400	Weak transcription	Right Atrium	heart
5	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
7	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47453200-47454400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:47454000-47454400	Flanking Active TSS	HepG2	liver
10	chr21:47454000-47455400	Weak transcription	Fetal Intestine Large	intestine
11	chr21:47454000-47455400	Weak transcription	Placenta	Placenta
12	chr21:47454000-47455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47454000-47455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47454200-47455400	Weak transcription	Fetal Lung	lung
15	chr21:47454200-47455400	Weak transcription	Fetal Stomach	stomach
16	chr21:47454200-47455400	Weak transcription	Ovary	ovary
17	chr21:47454200-47455400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:47454200-47455400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:47454400-47454600	Enhancers	HepG2	liver
20	chr21:47454400-47455600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:47454600-47455000	Weak transcription	HepG2	liver
22	chr21:47455000-47455400	Enhancers	HepG2	liver

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